A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5014n100



Internal ID20156630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195514016..195747880hg38UCSC Ensembl
chr3:195240812..195474751hg19UCSC Ensembl
chr3:196722101..196960422hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38233865
hg19233940
hg18238322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001683, nsv1009773, nsv1007617, nsv1009947, nsv1005951, nsv1004538
Samples
Known GenesAPOD, MIR570, MUC20, MUC4, PPP1R2, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5014n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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